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Vitamin D levels

near SLC4A4 · rs148189294

Where this position leads

Condition: Vitamin D Deficiency and the GC Gene

rs148189294 Condition: Vitamin D Deficiency and the GC Gene Vitamin D Deficiency and the GC Gene Condition rs148189294 rs148189294 near SLC4A4

What the study found

Who was studied 2,619 whole genome sequenced European ancestry individuals, up to 38,213 European ancestry individuals, 1,442 individuals.

The effect Each copy of the A allele shifted the measure 0.22 nmol/L lower (95% confidence interval 0.18-0.26); p = 2 × 10−28.

How common The A allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 4, band 4q13.3 — between genes, 3.1 kb from SLC4A4.

What each result means

A/A Two copies of the version the research linked to Vitamin D levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Vitamin D levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Vitamin D levels. This is the starting point the study compared everyone against.
Source
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
Manousaki D, Dudding T, Haworth S, Hsu YH, Liu CT, Medina-Gómez C, Voortman T, van der Velde N, Melhus H, Robinson-Cohen C, Cousminer DL, Nethander M
and 41 more — show all
Vandenput L, Noordam R, Forgetta V, Greenwood CMT, Biggs ML, Psaty BM, Rotter JI, Zemel BS, Mitchell JA, Taylor B, Lorentzon M, Karlsson M, Jaddoe VVW, Tiemeier H, Campos-Obando N, Franco OH, Utterlinden AG, Broer L, van Schoor NM, Ham AC, Ikram MA, Karasik D, de Mutsert R, Rosendaal FR, den Heijer M, Wang TJ, Lind L, Orwoll ES, Mook-Kanamori DO, Michaëlsson K, Kestenbaum B, Ohlsson C, Mellström D, de Groot LCPGM, Grant SFA, Kiel DP, Zillikens MC, Rivadeneira F, Sawcer S, Timpson NJ, Richards JB
American journal of human genetics · 2017 · PMID 28757204

Questions about rs148189294

What is rs148189294?

rs148189294 is a single position in the genome, in or near the near SLC4A4 gene. Published research associates it with vitamin d levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs148189294 linked to?

On MyGeneLog this position is linked to Vitamin D Deficiency and the GC Gene. The research behind each link, and its sources, are set out on that condition page.

Does having rs148189294 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs148189294 come from?

GWAS Catalog, Am J Hum Genet 2017, PMID:28757204. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Vitamin D levels (rs148189294). MyGeneLog™. https://www.mygenelog.com/variants/rs148189294

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